Related gene-specific medical variations for Gene (Select 51119) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3240426	NM_016038.4(SBDS):c.171dup (p.Val58fs)	SBDS (V58fs)	Duplication (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 3240425	NM_016038.4(SBDS):c.443A>G (p.Lys148Arg)	SBDS (K148R)	Single nucleotide variant (missense variant)	Aplastic anemia	GUncertain significance
Select item 3240424	NM_016038.4(SBDS):c.164C>G (p.Ser55Ter)	SBDS (S55*)	Single nucleotide variant (nonsense)	Aplastic anemia	GLikely pathogenic
Select item 2678603	NM_016038.4(SBDS):c.259-2A>C	SBDS	Single nucleotide variant (splice acceptor variant)	Aplastic anemia	GLikely pathogenic
Select item 2678602	NM_016038.4(SBDS):c.128+1G>A	SBDS	Single nucleotide variant (splice donor variant)	Aplastic anemia	GLikely pathogenic
Select item 2678601	NM_016038.4(SBDS):c.101A>T (p.Asn34Ile)	SBDS (N34I)	Single nucleotide variant (missense variant)	Aplastic anemia	GLikely pathogenic
Select item 2678600	NM_016038.4(SBDS):c.624+1G>A	SBDS	Single nucleotide variant (splice donor variant)	Aplastic anemia	GLikely pathogenic
Select item 2678599	NM_016038.4(SBDS):c.129-2A>C	SBDS	Single nucleotide variant (splice acceptor variant)	Aplastic anemia	GLikely pathogenic
Select item 2678598	NM_016038.4(SBDS):c.307_308del (p.Gln103fs)	SBDS (Q103fs)	Microsatellite (frameshift variant)	Aplastic anemia	GPathogenic
Select item 2678597	NM_016038.4(SBDS):c.115dup (p.Trp39fs)	SBDS (W39fs)	Duplication (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2678596	NM_016038.4(SBDS):c.129-71_140del	SBDS	Deletion (splice acceptor variant)	Aplastic anemia	GLikely pathogenic
Select item 2678594	NM_016038.4(SBDS):c.428C>T (p.Ser143Leu)	SBDS (S143L)	Single nucleotide variant (missense variant)	Aplastic anemia	GLikely pathogenic
Select item 2678593	NM_016038.4(SBDS):c.523del (p.Arg175fs)	SBDS (R175fs)	Deletion (frameshift variant)	Aplastic anemia	GLikely pathogenic
Select item 2678592	NM_016038.4(SBDS):c.107del (p.Val36fs)	SBDS (V36fs)	Deletion (frameshift variant)	Aplastic anemia	GPathogenic
Select item 2498197	NC_000007.14:g.66971410_66990307del	SBDS	Deletion	Shwachman-Diamond syndrome 1	GPathogenic
Select item 2441911	NM_016038.4(SBDS):c.541A>G (p.Asn181Asp)	SBDS (N181D)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1	GUncertain significance
Select item 2433145	NM_016038.4(SBDS):c.452_453dup (p.Gln152fs)	SBDS (Q152fs)	Duplication (frameshift variant)	Aplastic anemia +1 more	GLikely pathogenic
Select item 1327083	NM_016038.4(SBDS):c.326G>C (p.Arg109Thr)	SBDS (R109T)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1	GUncertain significance
Select item 1325034	NM_016038.4(SBDS):c.305_308del (p.Thr102fs)	SBDS (T102fs)	Microsatellite (frameshift variant)	Shwachman-Diamond syndrome 1	GLikely pathogenic
Select item 810095	NM_016038.4(SBDS):c.719A>G (p.Lys240Arg)	SBDS (K240R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636875	NM_016038.4(SBDS):c.61A>T (p.Lys21Ter)	SBDS (K21*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 21540	NM_016038.4(SBDS):c.377G>C (p.Arg126Thr)	SBDS (R126T)	Single nucleotide variant (missense variant)	Shwachman-Diamond syndrome 1	Gnot provided

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Links from Gene

Items: 22